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Aliases for ELMO2 Gene

Aliases for ELMO2 Gene

  • Engulfment And Cell Motility 2 2 3 5
  • Protein Ced-12 Homolog A 3 4
  • Engulfment And Cell Motility 2 (Ced-12 Homolog, C. Elegans) 2
  • Engulfment And Cell Motility Protein 2 3
  • PH Domain Protein CED12A 3
  • Ced-12 Homolog 2 3
  • KIAA1834 4
  • HCed-12A 4
  • Ced-12A 3
  • CED-12 3
  • ELMO-2 3
  • CED12A 4
  • CED12 3
  • VMPI 3

External Ids for ELMO2 Gene

Previous GeneCards Identifiers for ELMO2 Gene

  • GC20M044723
  • GC20M045633
  • GC20M045680
  • GC20M044428
  • GC20M044994
  • GC20M041735

Summaries for ELMO2 Gene

Entrez Gene Summary for ELMO2 Gene

  • The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for ELMO2 Gene

ELMO2 (Engulfment And Cell Motility 2) is a Protein Coding gene. Diseases associated with ELMO2 include Vascular Malformation, Primary Intraosseous and Vascular Malformation. Among its related pathways are RET signaling and Bacterial invasion of epithelial cells. GO annotations related to this gene include binding and receptor tyrosine kinase binding. An important paralog of this gene is ELMO1.

UniProtKB/Swiss-Prot for ELMO2 Gene

  • Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1.

Gene Wiki entry for ELMO2 Gene

Additional gene information for ELMO2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELMO2 Gene

Genomics for ELMO2 Gene

Regulatory Elements for ELMO2 Gene

Enhancers for ELMO2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H046398 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +31.8 31779 5 HDAC1 TBP MXI1 KLF1 MAX YY1 POLR2A RUNX3 MAFK HLF ELMO2 SLC35C2 CD40 LOC105372633 GC20M046352
GH20H046348 1.4 Ensembl ENCODE dbSUPER 10.6 +82.6 82581 4 HDGF PKNOX1 ATF1 RB1 RAD21 SCRT2 ZNF143 RUNX3 CREM IKZF2 NCOA5 ZNF335 SLC35C2 TP53RK ELMO2 ZSWIM1 SPATA25 CDH22 PIR48117 GC20P046317
GH20H047376 1.4 Ensembl ENCODE dbSUPER 10.5 -945.7 -945725 5 ELF3 PKNOX1 ATF1 FOXA2 ARNT ARID4B KLF17 RAD21 THRB ZSCAN9 ELMO2 GC20P047395 GC20M047326
GH20H046405 1.3 ENCODE dbSUPER 11.2 +26.4 26391 2 PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZBTB7B YY1 TCF12 GLIS2 ZNF143 NCOA5 TP53RK MKRN7P SPATA25 ELMO2 LOC100131496 LOC105372633 GC20M046352
GH20H046361 1.4 ENCODE dbSUPER 10.2 +68.8 68835 5 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF143 CD40 PCIF1 NCOA5 SLC12A5 SLC12A5-AS1 ELMO2 SLC35C2 PIR48117
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ELMO2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ELMO2 Gene

Chromosome:
20
Start:
46,366,049 bp from pter
End:
46,432,985 bp from pter
Size:
66,937 bases
Orientation:
Minus strand

Genomic View for ELMO2 Gene

Genes around ELMO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELMO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELMO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELMO2 Gene

Proteins for ELMO2 Gene

  • Protein details for ELMO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JJ3-ELMO2_HUMAN
    Recommended name:
    Engulfment and cell motility protein 2
    Protein Accession:
    Q96JJ3
    Secondary Accessions:
    • E1P5T3
    • Q5JVZ6
    • Q7Z5G9
    • Q96CJ2
    • Q96ME5
    • Q96PA9
    • Q9H938
    • Q9H9L5
    • Q9HAH0
    • Q9NQQ6

    Protein attributes for ELMO2 Gene

    Size:
    720 amino acids
    Molecular mass:
    82615 Da
    Quaternary structure:
    • Interacts with the SH3-domain of DOCK1 via its SH3-binding site. Probably part of a complex with DOCK1 and RAC1. Probably part of a complex with DOCK1 and CRK isoform CRK-II. Interacts with ARHGEF16, DOCK4 and EPHA2; mediates activation of RAC1 by EPHA2 (PubMed:20679435). Interacts with ADGRB3 (PubMed:24567399).
    SequenceCaution:
    • Sequence=BAB13879.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14210.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14405.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB47463.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ELMO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELMO2 Gene

Post-translational modifications for ELMO2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ELMO2 Gene

Domains & Families for ELMO2 Gene

Gene Families for ELMO2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ELMO2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ELMO2: view

No data available for UniProtKB/Swiss-Prot for ELMO2 Gene

Function for ELMO2 Gene

Molecular function for ELMO2 Gene

UniProtKB/Swiss-Prot Function:
Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1.

Gene Ontology (GO) - Molecular Function for ELMO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20679435
GO:0017124 SH3 domain binding IEA --
GO:0030971 receptor tyrosine kinase binding IPI 20679435
genes like me logo Genes that share ontologies with ELMO2: view
genes like me logo Genes that share phenotypes with ELMO2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ELMO2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ELMO2 Gene

Localization for ELMO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELMO2 Gene

Cytoplasm. Cytoplasm, cytosol. Membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELMO2 gene
Compartment Confidence
cytosol 5
nucleus 2
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ELMO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA,IEA 20679435
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ELMO2: view

Pathways & Interactions for ELMO2 Gene

genes like me logo Genes that share pathways with ELMO2: view

Gene Ontology (GO) - Biological Process for ELMO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006909 phagocytosis IEA --
GO:0006915 apoptotic process IEA --
GO:0007010 cytoskeleton organization IEA --
GO:0016477 cell migration IEA --
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS --
genes like me logo Genes that share ontologies with ELMO2: view

No data available for SIGNOR curated interactions for ELMO2 Gene

Drugs & Compounds for ELMO2 Gene

(3) Drugs for ELMO2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with ELMO2: view

Transcripts for ELMO2 Gene

Unigene Clusters for ELMO2 Gene

Engulfment and cell motility 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ELMO2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ELMO2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^
SP1: - - -
SP2: - - - - - -
SP3: - -
SP4: - - - - -
SP5: - - - -
SP6:
SP7: - - - - - -
SP8: - - - - -
SP9: - - - - - -
SP10: - - - - - - -
SP11: - - - - -
SP12: - - -
SP13: - - -
SP14: - -
SP15: - -
SP16: - - - - - - -
SP17: - - -
SP18: - - - - - - -
SP19: - - - -
SP20:
SP21:
SP22:

ExUns: 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25
SP1: - - -
SP2: - - -
SP3: - - -
SP4: -
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

Relevant External Links for ELMO2 Gene

GeneLoc Exon Structure for
ELMO2
ECgene alternative splicing isoforms for
ELMO2

Expression for ELMO2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ELMO2 Gene

Protein differential expression in normal tissues from HIPED for ELMO2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.3), Breast (11.2), and Monocytes (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ELMO2 Gene



Protein tissue co-expression partners for ELMO2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ELMO2 Gene:

ELMO2

SOURCE GeneReport for Unigene cluster for ELMO2 Gene:

Hs.210469

mRNA Expression by UniProt/SwissProt for ELMO2 Gene:

Q96JJ3-ELMO2_HUMAN
Tissue specificity: Widely expressed, with a higher expression in skeletal muscle, kidney and placenta.

Evidence on tissue expression from TISSUES for ELMO2 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with ELMO2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELMO2 Gene

Orthologs for ELMO2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ELMO2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELMO2 33 34
  • 99.68 (n)
oppossum
(Monodelphis domestica)
Mammalia ELMO2 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELMO2 33 34
  • 93.52 (n)
cow
(Bos Taurus)
Mammalia ELMO2 33 34
  • 91.99 (n)
rat
(Rattus norvegicus)
Mammalia Elmo2 33
  • 89.95 (n)
mouse
(Mus musculus)
Mammalia Elmo2 33 16 34
  • 89.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ELMO2 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELMO2 33 34
  • 83.7 (n)
lizard
(Anolis carolinensis)
Reptilia ELMO2 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elmo1 33
  • 78.43 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68475 33
zebrafish
(Danio rerio)
Actinopterygii ELMO2 34
  • 79 (a)
OneToOne
LOC100006857 33
  • 75.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ced-12 35 34
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea ced-12 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
ManyToMany
-- 34
  • 47 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03264 33
  • 43.92 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3186 33
Species where no ortholog for ELMO2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ELMO2 Gene

ENSEMBL:
Gene Tree for ELMO2 (if available)
TreeFam:
Gene Tree for ELMO2 (if available)

Paralogs for ELMO2 Gene

Paralogs for ELMO2 Gene

Pseudogenes.org Pseudogenes for ELMO2 Gene

genes like me logo Genes that share paralogs with ELMO2: view

Variants for ELMO2 Gene

Sequence variations from dbSNP and Humsavar for ELMO2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs768410753 Pathogenic 46,375,235(+) ACTTA(C/T)GGTAA splice-donor-variant
rs886037918 Pathogenic 46,370,526(-) TATCA(C/G)TTCCT splice-acceptor-variant
rs886037919 Pathogenic 46,367,443(-) TGGAC(-/C)TGGAG reference, frameshift-variant
rs1000175648 -- 46,372,374(+) GTTGC(A/C)GTAGC intron-variant
rs1000224771 -- 46,371,072(+) GTGGG(C/T)AGTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ELMO2 Gene

Variant ID Type Subtype PubMed ID
esv3645953 CNV loss 21293372
nsv1057686 CNV loss 25217958
nsv586155 CNV loss 21841781
nsv820217 CNV loss 19587683
nsv979434 CNV duplication 23825009

Variation tolerance for ELMO2 Gene

Residual Variation Intolerance Score: 14.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.49; 43.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELMO2 Gene

Human Gene Mutation Database (HGMD)
ELMO2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELMO2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELMO2 Gene

Disorders for ELMO2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ELMO2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
vascular malformation, primary intraosseous
  • primary intraosseous venous malformation
vascular malformation
hemophagocytic lymphohistiocytosis, familial, 2
  • familial hemophagocytic lymphohistiocytosis 2
hemophagocytic lymphohistiocytosis, familial, 1
  • familial hemophagocytic lymphohistiocytosis 1
- elite association - COSMIC cancer census association via MalaCards
Search ELMO2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ELMO2_HUMAN
  • Vascular malformation, primary intraosseous (VMOS) [MIM:606893]: A rare malformation characterized by non-neoplastic severe expansions of blood vessels, usually seen in the vertebral column and in the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. Inheritance is autosomal recessive. {ECO:0000269 PubMed:27476657}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ELMO2

Genetic Association Database (GAD)
ELMO2
Human Genome Epidemiology (HuGE) Navigator
ELMO2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELMO2
genes like me logo Genes that share disorders with ELMO2: view

No data available for Genatlas for ELMO2 Gene

Publications for ELMO2 Gene

  1. CED-12/ELMO, a novel member of the CrkII/Dock180/Rac pathway, is required for phagocytosis and cell migration. (PMID: 11595183) Gumienny TL … Ravichandran KS (Cell 2001) 2 3 4 60
  2. Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling. (PMID: 27476657) Cetinkaya A … Akarsu NA (American journal of human genetics 2016) 3 4 60
  3. G-protein coupled receptor BAI3 promotes myoblast fusion in vertebrates. (PMID: 24567399) Hamoud N … Côté JF (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 60
  4. Ephexin4 and EphA2 mediate cell migration through a RhoG-dependent mechanism. (PMID: 20679435) Hiramoto-Yamaki N … Katoh H (The Journal of cell biology 2010) 3 4 60
  5. Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1. (PMID: 18602983) Bento JL … Mychaleckyj JC (Genomics 2008) 3 45 60

Products for ELMO2 Gene

Sources for ELMO2 Gene

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